Variant report

Variant	rs62308002
Chromosome Location	chr4:79838691-79838692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79837404..79838979-chr4:79854322..79856124,2	K562	blood:
2	chr4:79510631..79512821-chr4:79838230..79840784,2	K562	blood:
3	chr4:79838465..79840244-chr4:79841781..79843720,2	K562	blood:
4	chr4:79836564..79840244-chr4:79843893..79846943,5	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10005471	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10010709	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10027127	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10213354	0.88[ASN][1000 genomes]
rs10518201	0.82[ASN][1000 genomes]
rs10518202	0.85[ASN][1000 genomes]
rs10518205	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10518206	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518208	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518209	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641797	0.87[ASN][1000 genomes]
rs12643807	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644278	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12644502	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12644685	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12645310	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647482	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647524	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647653	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648219	0.83[ASN][1000 genomes]
rs12648396	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12648450	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649750	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649863	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649978	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650337	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426137	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426139	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564458	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997408	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17003443	0.83[ASN][1000 genomes]
rs17003450	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17003451	0.86[ASN][1000 genomes]
rs17003453	0.88[ASN][1000 genomes]
rs17003454	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17003464	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17003465	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17003472	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17003478	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17003479	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17003488	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17003489	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003492	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17003499	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003500	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003503	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003504	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003511	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008951	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1834517	0.88[ASN][1000 genomes]
rs1972691	0.86[ASN][1000 genomes]
rs1978552	0.83[ASN][1000 genomes]
rs2033060	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033061	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033062	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2033063	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2114203	0.86[ASN][1000 genomes]
rs2127781	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162228	0.88[ASN][1000 genomes]
rs2170243	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288255	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291181	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2306443	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372745	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28410307	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28411173	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28489278	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28499303	0.82[ASN][1000 genomes]
rs28515480	0.86[ASN][1000 genomes]
rs28579738	0.86[ASN][1000 genomes]
rs28587143	0.86[ASN][1000 genomes]
rs28621590	0.86[ASN][1000 genomes]
rs28719734	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2903591	0.88[ASN][1000 genomes]
rs35741786	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3775513	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775514	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775515	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775516	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3775518	0.86[ASN][1000 genomes]
rs3775519	0.86[ASN][1000 genomes]
rs3775522	0.86[ASN][1000 genomes]
rs3775525	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3796681	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796682	0.97[ASN][1000 genomes]
rs3811766	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822107	0.96[ASN][1000 genomes]
rs3822108	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs41418051	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs41509244	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432766	0.83[ASN][1000 genomes]
rs4550959	0.88[ASN][1000 genomes]
rs4637427	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56802690	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57011679	0.83[ASN][1000 genomes]
rs57429247	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57574345	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57707267	0.83[ASN][1000 genomes]
rs57767544	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58109910	0.91[AFR][1000 genomes]
rs58634945	0.82[ASN][1000 genomes]
rs58761040	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59030520	0.88[ASN][1000 genomes]
rs59707131	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59994556	0.82[ASN][1000 genomes]
rs60830908	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60981779	0.88[ASN][1000 genomes]
rs61073409	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61193392	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61470194	0.86[ASN][1000 genomes]
rs61671866	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62307961	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307962	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307963	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307964	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62307966	0.92[ASN][1000 genomes]
rs62307967	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62307968	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62307994	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62307995	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62307996	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62308000	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62308001	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62308004	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308006	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308007	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308008	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308009	1.00[ASN][1000 genomes]
rs62308010	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308011	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308012	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308013	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308042	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308350	0.82[ASN][1000 genomes]
rs62308353	0.83[ASN][1000 genomes]
rs62308358	0.83[ASN][1000 genomes]
rs62310760	0.82[ASN][1000 genomes]
rs62310763	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62310789	0.86[ASN][1000 genomes]
rs62310790	0.86[ASN][1000 genomes]
rs62310793	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62310795	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62310796	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62310800	0.86[ASN][1000 genomes]
rs62310803	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62310804	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62310806	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62310809	0.87[ASN][1000 genomes]
rs62310810	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62310811	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62310843	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6534005	0.88[ASN][1000 genomes]
rs6814884	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6828501	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6830661	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6838118	0.86[ASN][1000 genomes]
rs6839280	0.83[ASN][1000 genomes]
rs6843114	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6844426	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845695	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6850116	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6854774	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6857012	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6857679	0.83[ASN][1000 genomes]
rs727760	0.83[ASN][1000 genomes]
rs727761	0.83[ASN][1000 genomes]
rs7439893	0.83[ASN][1000 genomes]
rs7662194	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7671578	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674715	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681040	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681426	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682144	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691065	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691825	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7692418	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7692450	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7694563	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7696247	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9992277	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
2	chr4:79794200-79850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79794200-79859600	Weak transcription	Colonic Mucosa	Colon
4	chr4:79794400-79850000	Weak transcription	Pancreas	Pancrea
5	chr4:79794800-79850200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:79794800-79858000	Weak transcription	HepG2	liver
7	chr4:79796400-79844800	Weak transcription	Fetal Heart	heart
8	chr4:79799200-79858000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:79812000-79842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:79814600-79859600	Weak transcription	Fetal Kidney	kidney
11	chr4:79815200-79845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:79815800-79846600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:79816000-79848200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:79816200-79848600	Weak transcription	Fetal Lung	lung
15	chr4:79816200-79858400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:79816400-79843200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:79827400-79858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:79827400-79858000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:79829000-79859200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:79829400-79839000	Strong transcription	Dnd41	blood
21	chr4:79830200-79850000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:79830200-79859200	Weak transcription	Hela-S3	cervix
23	chr4:79830600-79839000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:79831000-79850000	Weak transcription	Gastric	stomach
25	chr4:79831200-79858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:79831400-79856600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:79833000-79843400	Weak transcription	Brain Germinal Matrix	brain
28	chr4:79833000-79849800	Weak transcription	Fetal Stomach	stomach
29	chr4:79833000-79850000	Weak transcription	Lung	lung
30	chr4:79833000-79850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:79833000-79850000	Weak transcription	Spleen	Spleen
32	chr4:79833000-79850000	Weak transcription	HSMMtube	muscle
33	chr4:79833000-79859800	Weak transcription	Esophagus	oesophagus
34	chr4:79833000-79859800	Weak transcription	Right Ventricle	heart
35	chr4:79833200-79842800	Weak transcription	NHEK	skin
36	chr4:79833200-79843200	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:79833200-79843200	Weak transcription	Osteobl	bone
38	chr4:79833200-79844200	Weak transcription	Fetal Intestine Small	intestine
39	chr4:79833200-79844800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:79833200-79845000	Weak transcription	Fetal Brain Female	brain
41	chr4:79833200-79845200	Weak transcription	Left Ventricle	heart
42	chr4:79833200-79845200	Weak transcription	Thymus	Thymus
43	chr4:79833200-79846600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:79833200-79847000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:79833200-79847000	Weak transcription	HMEC	breast
46	chr4:79833200-79847400	Weak transcription	Brain Anterior Caudate	brain
47	chr4:79833200-79848600	Weak transcription	Aorta	Aorta
48	chr4:79833200-79848600	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:79833200-79849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:79833200-79849800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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